Cargando…

Dystrophin quantification: Biological and translational research implications

OBJECTIVE: We formed a multi-institution collaboration in order to compare dystrophin quantification methods, reach a consensus on the most reliable method, and report its biological significance in the context of clinical trials. METHODS: Five laboratories with expertise in dystrophin quantificatio...

Descripción completa

Detalles Bibliográficos
Autores principales:	Anthony, Karen, Arechavala-Gomeza, Virginia, Taylor, Laura E., Vulin, Adeline, Kaminoh, Yuuki, Torelli, Silvia, Feng, Lucy, Janghra, Narinder, Bonne, Gisèle, Beuvin, Maud, Barresi, Rita, Henderson, Matt, Laval, Steven, Lourbakos, Afrodite, Campion, Giles, Straub, Volker, Voit, Thomas, Sewry, Caroline A., Morgan, Jennifer E., Flanigan, Kevin M., Muntoni, Francesco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248450/ https://www.ncbi.nlm.nih.gov/pubmed/25355828 http://dx.doi.org/10.1212/WNL.0000000000001025

Ejemplares similares

Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies
por: Janghra, Narinder, et al.
Publicado: (2016)

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients
por: Torelli, Silvia, et al.
Publicado: (2021)

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
por: Cirak, Sebahattin, et al.
Publicado: (2011)

A Sensitive, Reproducible and Objective Immunofluorescence Analysis Method of Dystrophin in Individual Fibers in Samples from Patients with Duchenne Muscular Dystrophy
por: Beekman, Chantal, et al.
Publicado: (2014)

Placebo‐controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy
por: McDonald, Craig M., et al.
Publicado: (2018)

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology
por: Aartsma-Rus, Annemieke, et al.
Publicado: (2019)

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
por: Kinali, Maria, et al.
Publicado: (2009)

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples
por: Sardone, Valentina, et al.
Publicado: (2018)

A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping
por: Walmsley, Gemma L., et al.
Publicado: (2010)

A Muscle Hybrid Promoter as a Novel Tool for Gene Therapy
por: Piekarowicz, Katarzyna, et al.
Publicado: (2019)

Special Issue “Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy”
por: Arechavala-Gomeza, Virginia, et al.
Publicado: (2021)

Researcher's Perceptions on Publishing “Negative” Results and Open Access
por: Echevarría, Lucía, et al.
Publicado: (2021)

Experimental Model Systems Used in the Preclinical Development of Nucleic Acid Therapeutics
por: Zhou, Haiyan, et al.
Publicado: (2023)

Splicing modulation therapy in the treatment of genetic diseases
por: Arechavala-Gomeza, Virginia, et al.
Publicado: (2014)

Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy
por: Meng, Jinhong, et al.
Publicado: (2016)

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
por: Frank, Diane E., et al.
Publicado: (2020)

Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
por: Greer, Kane L, et al.
Publicado: (2014)

Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy
por: Chesshyre, Mary, et al.
Publicado: (2022)

Multiple exon skipping strategies to by-pass dystrophin mutations
por: Adkin, Carl F., et al.
Publicado: (2012)

A novel DMD IRES results in a functional N-truncated dystrophin, providing a potential route to therapy for patients with 5’ mutations
por: Wein, Nicolas, et al.
Publicado: (2014)

Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies
por: Vetter, Tatyana A., et al.
Publicado: (2021)

Antisense suppression of donor splice site mutations in the dystrophin gene transcript
por: Fletcher, Sue, et al.
Publicado: (2013)

Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping
por: Simmons, Tabatha R., et al.
Publicado: (2021)

Longitudinal ambulatory measurements of gait abnormality in dystrophin-deficient dogs
por: Barthélémy, Inès, et al.
Publicado: (2011)

Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene
por: Fletcher, Sue, et al.
Publicado: (2012)

Necroptosis mediates myofibre death in dystrophin-deficient mice
por: Morgan, Jennifer E., et al.
Publicado: (2018)

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy
por: Azibani, Feriel, et al.
Publicado: (2018)

Long-Term Efficacy, Safety, and Pharmacokinetics of Drisapersen in Duchenne Muscular Dystrophy: Results from an Open-Label Extension Study
por: Goemans, Nathalie M., et al.
Publicado: (2016)

Fine Needle Aspiration of Thyroid Nodules Using the Bethesda System for Reporting Thyroid Cytopathology: An Institutional Experience in a Rural Setting
por: Guo, Aili, et al.
Publicado: (2017)

Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency
por: Maresh, Kate, et al.
Publicado: (2022)

Flow Cytometry for the Analysis of α-Dystroglycan Glycosylation in Fibroblasts from Patients with Dystroglycanopathies
por: Stevens, Elizabeth, et al.
Publicado: (2013)

A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies
por: Scaglioni, Dominic, et al.
Publicado: (2020)

The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I
por: Koehorst, Emma, et al.
Publicado: (2020)

Dystrophins and dystrobrevins
por: Roberts, Roland G
Publicado: (2001)

The importance of dystrophin and the dystrophin associated proteins in vascular smooth muscle
por: Kaplan, Katherine M., et al.
Publicado: (2022)

Publisher Correction: Necroptosis mediates myofibre death in dystrophin-deficient mice
por: Morgan, Jennifer E., et al.
Publicado: (2018)

Lentiviral vectors can be used for full-length dystrophin gene therapy
por: Counsell, John R., et al.
Publicado: (2017)

Lentiviral vectors can be used for full-length dystrophin gene therapy
por: Counsell, John R., et al.
Publicado: (2017)

MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet
por: Boor, Ilja, et al.
Publicado: (2007)

Regulation of the dystrophin-associated glycoprotein complex composition by the metabolic properties of muscle fibres
por: Omairi, Saleh, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_pcvpesuu6i2lm0ks6f8sr9n9n0